Variant report

Variant	nsv459877
Chromosome Location	chr22:33866854-33932624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33904729..33906415-chr22:33911852..33913937,2	K562	blood:
2	chr22:33915114..33915817-chr22:33975164..33976137,2	MCF-7	breast:
3	chr22:33908671..33911236-chr22:34314506..34317499,3	MCF-7	breast:
4	chr17:31001718..31002627-chr22:33884453..33885240,2	MCF-7	breast:
5	chr22:33904729..33906415-chr22:33911852..33913937,2	K562	blood:
6	chr22:33914896..33915863-chr22:33975082..33976024,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133424	chromatin interactions

Extended variants
information (count: 2938 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2938 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2267215	chr22:33866854-33866855	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554288774	chr22:33866888-33866889	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs74607750	chr22:33866951-33866952	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs73166293	chr22:33866954-33866955	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs374945986	chr22:33866981-33866982	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs372332553	chr22:33867015-33867016	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs533917550	chr22:33867016-33867017	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs202159648	chr22:33867017-33867018	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs373918030	chr22:33867018-33867019	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs548889541	chr22:33867021-33867022	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs79172132	chr22:33867034-33867035	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs142480435	chr22:33867043-33867044	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs565040102	chr22:33867044-33867045	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs372768624	chr22:33867046-33867047	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs146244050	chr22:33867075-33867076	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556446947	chr22:33867125-33867126	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs5754570	chr22:33867145-33867146	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs386820831	chr22:33867162-33867163	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs2267216	chr22:33867163-33867164	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs117088897	chr22:33867179-33867180	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs553039656	chr22:33867222-33867223	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs144157665	chr22:33867239-33867240	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs369025828	chr22:33867250-33867251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs541844189	chr22:33867304-33867305	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561508518	chr22:33867312-33867313	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574618845	chr22:33867334-33867335	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs151325823	chr22:33867343-33867344	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs369388681	chr22:33867348-33867349	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs372902648	chr22:33867353-33867354	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs151001965	chr22:33867370-33867371	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs563434314	chr22:33867372-33867373	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs76604498	chr22:33867376-33867377	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs114561650	chr22:33867401-33867402	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs559159574	chr22:33867402-33867403	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs564220402	chr22:33867443-33867444	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs375896603	chr22:33867451-33867452	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs9621705	chr22:33867464-33867465	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552376055	chr22:33867472-33867473	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs9621706	chr22:33867479-33867480	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs114697297	chr22:33867498-33867499	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs181944483	chr22:33867510-33867511	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs369628577	chr22:33867575-33867576	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs550771387	chr22:33867619-33867620	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs548891482	chr22:33867626-33867627	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs55864887	chr22:33867691-33867692	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs568358671	chr22:33867719-33867720	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs139610237	chr22:33867744-33867745	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs539623397	chr22:33867746-33867747	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs187133088	chr22:33867747-33867748	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs149994752	chr22:33867748-33867749	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:980 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33857000-33872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr22:33857600-33868200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:33861200-33872200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:33861400-33868800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr22:33861800-33868800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr22:33861800-33872800	Weak transcription	Pancreas	Pancrea
7	chr22:33862200-33883000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr22:33862400-33867600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr22:33863600-33872000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr22:33864000-33867400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr22:33864000-33868200	Weak transcription	Right Ventricle	heart
12	chr22:33864000-33888200	Weak transcription	Fetal Stomach	stomach
13	chr22:33864000-33888200	Weak transcription	Ovary	ovary
14	chr22:33864200-33867600	Weak transcription	Psoas Muscle	Psoas
15	chr22:33864200-33868000	Weak transcription	NHDF-Ad	bronchial
16	chr22:33864200-33868200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:33864200-33872800	Weak transcription	Right Atrium	heart
18	chr22:33866200-33868200	Enhancers	HepG2	liver
19	chr22:33866400-33868400	Enhancers	Fetal Heart	heart
20	chr22:33866400-33869200	Flanking Active TSS	GM12878-XiMat	blood
21	chr22:33866600-33867200	Enhancers	Left Ventricle	heart
22	chr22:33866800-33872000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:33867200-33870400	Weak transcription	Left Ventricle	heart
24	chr22:33867400-33868000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr22:33867600-33868000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr22:33867600-33869600	Enhancers	Psoas Muscle	Psoas
27	chr22:33868000-33868400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr22:33868000-33868400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr22:33868000-33868400	Enhancers	NHDF-Ad	bronchial
30	chr22:33868000-33868800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr22:33868000-33869000	Enhancers	HSMM	muscle
32	chr22:33868000-33872600	Weak transcription	Osteobl	bone
33	chr22:33868200-33868400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr22:33868200-33868400	Enhancers	Right Ventricle	heart
35	chr22:33868200-33869000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:33868200-33869000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:33868200-33869000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr22:33868200-33869000	Enhancers	HSMMtube	muscle
39	chr22:33868200-33872000	Weak transcription	HepG2	liver
40	chr22:33868400-33868600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr22:33868400-33868600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr22:33868400-33868800	Enhancers	Colon Smooth Muscle	Colon
43	chr22:33868400-33868800	Flanking Active TSS	Fetal Heart	heart
44	chr22:33868400-33868800	Weak transcription	Right Ventricle	heart
45	chr22:33868400-33869000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr22:33868400-33871000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr22:33868400-33872400	Weak transcription	NHDF-Ad	bronchial
48	chr22:33868600-33868800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr22:33868600-33869200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr22:33868800-33869000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell

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